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Double Heterozygous ßd-Thalassemia in Negroes

Double Heterozygous ßd-Thalassemia in Negroes Abstract The biochemical defect in thalassemia is thought to consist of a diminished capacity of the erythropoietic cells to synthesize one of the polypeptide chains of hemoglobin. Thus, the common variants of this disease have been designated as αand β-thalassemia. β-Thalassemia is usually associated with a twofold increased proportion of hemoglobin A2 and a slight elevation of fetal hemoglobin (hemoglobin F) in hemolysates, but many families have been described in which the hemoglobin abnormality is characterized by low or normal levels of hemoglobin A2 and high concentrations of hemoglobin F (10% to 30%). This variant of the disease has been designated as F-thalassemia or βδ-thalassemia since the synthesis of both β- and δ-chains appears to be impaired. The distribution of hemoglobin F in the erythrocyte population is uneven in contrast to the hereditary persistence of fetal hemoglobin (HPFH) in which all erythrocytes appear to have the same concentration of hemoglobin References 1. Malamos B, Fessas P, Stamatoyannopoulos G: Types of thalassemia-trait carriers as revealed by a study of their incidence in Greece. Brit J Haemat 8:5-14, 1962.Crossref 2. Stamatoyannopoulos G, Papayannopoulou T, Fessas P, et al: The beta-delta thalassemias. Ann NY Acad Sci 165:25-36, 1969.Crossref 3. Silvestroni E, Bianco I, Reitano G: Three cases of homozygous βδ-thalassemia (or microcythaemia) with high haemoglobin F in a Sicilian family. Acta Haemat 40:220-229, 1968.Crossref 4. Brancati C, Baglioni C: Homozygous βδ thalassemia (βδ microcythaemia). Nature 212:262-264, 1966.Crossref 5. Aksoy M, Erdem S: Some problems of hemoglobin patterns in different thalassemic syndromes showing the heterogeneity of betathalassemia genes. Ann NY Acad Sci 165:13-24, 1969.Crossref 6. Ramot B, Ben-Bassat I, Gafni D, et al: A family with three βδ-thalassemia homozygotes. Blood 35:158-165, 1970. 7. Weatherall DJ: Biochemical phenotypes of thalassemia in the American Negro population. Ann NY Acad Sci 119:450-462, 1964.Crossref 8. Pearson HA: Hemoglobin S-thalassemia syndrome in Negro children. Ann NY Acad Sci 165:83-92, 1969.Crossref 9. Wasi P, Na-Nakorn S, Pootrakul S, et al: Alpha- and beta-thalassemia in Thailand. Ann NY Acad Sci 165:60-82, 1969.Crossref 10. Flatz G, Pik C, Sringam S: Haemoglobinopathies in Thailand: II. Incidence and distribution of elevations of hemoglobin A2 and hemoglobin F: A survey of 2,790 people. Brit J Haemat 11:227-236, 1965.Crossref 11. Zuelzer WW, Robinson AR, Booker CR: Reciprocal relationship of hemoglobins A, and F in beta chain thalassemias: A key to the genetic control of hemaglobulin F. Blood 17:393-408, 1961. 12. Necheles TF, Allen DM, Gerald PS: The many forms of thalassemia: Definition and classification of the thalassemia syndromes. Ann NY Acad Sci 165:5-12, 1969.Crossref 13. Wolff JA, Ignatov VG: Heterogeneity of thalassemia major. Amer J Dis Child 105:234-242, 1963. 14. Gabuzda TG, Nathan DG, Gardner FH: Thalassemia trait: Genetic combinations of increased fetal and A2 hemoglobins. New Eng J Med 270:1212-1217, 1964.Crossref 15. Stamatoyannopoulos G, Fessas P, Papayannopoulou T: F-thalassemia a study of 31 families with simple heterozygotes and combinations of F-thalassemia with A2-thalassemia. Amer J Med 47:194-208, 1969.Crossref 16. Page LB, Culver PJ (eds): A Syllabus of Laboratory Examinations in Clinical Diagnosis . Cambridge, Mass, Harvard University Press, 1961. 17. Singer K, Chernoff AI, Singer L: Studies on abnormal hemoglobins: I. Their demonstration in sickle cell anemia and other hematologic disorders by means of alkali denaturation. Blood 6:413-428, 1951. 18. Betke K, Marti HR, Schlicht I: Estimation of small percentages of foetal hemoglobin. Nature 184:1877-1878, 1959.Crossref 19. Robinson AR, Robson M, Harrison AP, et al: A new technique for differentiation of hemoglobin. J Lab Clin Med 50:745-752, 1957. 20. Kohn J: Separation of haemoglobins on cellulose acetate. J Clin Path 22:109-111, 1969.Crossref 21. Josephson AM, Weinstein G, Yakulis VJ, et al: A new variant of hemoglobin M disease: Hemoglobin M Chicago. J Lab Clin Med 59:918-925, 1962. 22. Shepard MK, Weatherall DJ, Conley CL: Semi-quantitative estimation of the distribution of fetal hemoglobin in red cell populations. Bull Hopkins Hosp 110:293-310, 1962. 23. Yakulis VJ, Heller P: An elution test for the visualization of hemoglobin S in blood smears. Blood 24:198-201, 1964. 24. Huisman TH, Dozy AM: Studies on the heterogeneity of hemoglobins: IX. The use of Tris (hydroxymethyl)-aminomethaneHCl buffers in the anion-exchange chromatography of hemoglobins. J Chromatogr 19:160-169, 1965.Crossref 25. Comings DE, Motulsky AG: Absence of cis delta chain synthesis in (βδ) thalassemia (F-thalassemia). Blood 28:54-69, 1966. 26. Heller P: Hemoglobinopathic dysfunction of the red cell. Amer J Med 41:799-814, 1966.Crossref 27. Serjeant GR: Irreversibly sickled cells and splenomegaly in sickle-cell anaemia. Brit J Haemat 19:635-641, 1970.Crossref 28. Gabuzda TG, Nathan DG, Gardner FH: The turnover of hemoglobins A, F and A2 in the peripheral blood of three patients with thalassemia. J Clin Invest 42:1678-1688, 1963.Crossref 29. Fessas P, Stamatoyannopoulos G: Hereditary persistence of fetal hemoglobin in Greece: A study and a comparison. Blood 24:223-240, 1964. 30. Conley CL, Weatherall DJ, Richardson SN, et al: Hereditary persistence of fetal hemoglobin: A study of 79 affected persons in 15 Negro families in Baltimore. Blood 21:261-281, 1963. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Internal Medicine American Medical Association

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Publisher
American Medical Association
Copyright
Copyright © 1972 American Medical Association. All Rights Reserved.
ISSN
0003-9926
eISSN
1538-3679
DOI
10.1001/archinte.1972.00320060123017
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Abstract

Abstract The biochemical defect in thalassemia is thought to consist of a diminished capacity of the erythropoietic cells to synthesize one of the polypeptide chains of hemoglobin. Thus, the common variants of this disease have been designated as αand β-thalassemia. β-Thalassemia is usually associated with a twofold increased proportion of hemoglobin A2 and a slight elevation of fetal hemoglobin (hemoglobin F) in hemolysates, but many families have been described in which the hemoglobin abnormality is characterized by low or normal levels of hemoglobin A2 and high concentrations of hemoglobin F (10% to 30%). This variant of the disease has been designated as F-thalassemia or βδ-thalassemia since the synthesis of both β- and δ-chains appears to be impaired. The distribution of hemoglobin F in the erythrocyte population is uneven in contrast to the hereditary persistence of fetal hemoglobin (HPFH) in which all erythrocytes appear to have the same concentration of hemoglobin References 1. Malamos B, Fessas P, Stamatoyannopoulos G: Types of thalassemia-trait carriers as revealed by a study of their incidence in Greece. Brit J Haemat 8:5-14, 1962.Crossref 2. Stamatoyannopoulos G, Papayannopoulou T, Fessas P, et al: The beta-delta thalassemias. Ann NY Acad Sci 165:25-36, 1969.Crossref 3. Silvestroni E, Bianco I, Reitano G: Three cases of homozygous βδ-thalassemia (or microcythaemia) with high haemoglobin F in a Sicilian family. Acta Haemat 40:220-229, 1968.Crossref 4. Brancati C, Baglioni C: Homozygous βδ thalassemia (βδ microcythaemia). Nature 212:262-264, 1966.Crossref 5. Aksoy M, Erdem S: Some problems of hemoglobin patterns in different thalassemic syndromes showing the heterogeneity of betathalassemia genes. Ann NY Acad Sci 165:13-24, 1969.Crossref 6. Ramot B, Ben-Bassat I, Gafni D, et al: A family with three βδ-thalassemia homozygotes. Blood 35:158-165, 1970. 7. Weatherall DJ: Biochemical phenotypes of thalassemia in the American Negro population. Ann NY Acad Sci 119:450-462, 1964.Crossref 8. Pearson HA: Hemoglobin S-thalassemia syndrome in Negro children. Ann NY Acad Sci 165:83-92, 1969.Crossref 9. Wasi P, Na-Nakorn S, Pootrakul S, et al: Alpha- and beta-thalassemia in Thailand. Ann NY Acad Sci 165:60-82, 1969.Crossref 10. Flatz G, Pik C, Sringam S: Haemoglobinopathies in Thailand: II. Incidence and distribution of elevations of hemoglobin A2 and hemoglobin F: A survey of 2,790 people. Brit J Haemat 11:227-236, 1965.Crossref 11. Zuelzer WW, Robinson AR, Booker CR: Reciprocal relationship of hemoglobins A, and F in beta chain thalassemias: A key to the genetic control of hemaglobulin F. Blood 17:393-408, 1961. 12. Necheles TF, Allen DM, Gerald PS: The many forms of thalassemia: Definition and classification of the thalassemia syndromes. Ann NY Acad Sci 165:5-12, 1969.Crossref 13. Wolff JA, Ignatov VG: Heterogeneity of thalassemia major. Amer J Dis Child 105:234-242, 1963. 14. Gabuzda TG, Nathan DG, Gardner FH: Thalassemia trait: Genetic combinations of increased fetal and A2 hemoglobins. New Eng J Med 270:1212-1217, 1964.Crossref 15. Stamatoyannopoulos G, Fessas P, Papayannopoulou T: F-thalassemia a study of 31 families with simple heterozygotes and combinations of F-thalassemia with A2-thalassemia. Amer J Med 47:194-208, 1969.Crossref 16. Page LB, Culver PJ (eds): A Syllabus of Laboratory Examinations in Clinical Diagnosis . Cambridge, Mass, Harvard University Press, 1961. 17. Singer K, Chernoff AI, Singer L: Studies on abnormal hemoglobins: I. Their demonstration in sickle cell anemia and other hematologic disorders by means of alkali denaturation. Blood 6:413-428, 1951. 18. Betke K, Marti HR, Schlicht I: Estimation of small percentages of foetal hemoglobin. Nature 184:1877-1878, 1959.Crossref 19. Robinson AR, Robson M, Harrison AP, et al: A new technique for differentiation of hemoglobin. J Lab Clin Med 50:745-752, 1957. 20. Kohn J: Separation of haemoglobins on cellulose acetate. J Clin Path 22:109-111, 1969.Crossref 21. Josephson AM, Weinstein G, Yakulis VJ, et al: A new variant of hemoglobin M disease: Hemoglobin M Chicago. J Lab Clin Med 59:918-925, 1962. 22. Shepard MK, Weatherall DJ, Conley CL: Semi-quantitative estimation of the distribution of fetal hemoglobin in red cell populations. Bull Hopkins Hosp 110:293-310, 1962. 23. Yakulis VJ, Heller P: An elution test for the visualization of hemoglobin S in blood smears. Blood 24:198-201, 1964. 24. Huisman TH, Dozy AM: Studies on the heterogeneity of hemoglobins: IX. The use of Tris (hydroxymethyl)-aminomethaneHCl buffers in the anion-exchange chromatography of hemoglobins. J Chromatogr 19:160-169, 1965.Crossref 25. Comings DE, Motulsky AG: Absence of cis delta chain synthesis in (βδ) thalassemia (F-thalassemia). Blood 28:54-69, 1966. 26. Heller P: Hemoglobinopathic dysfunction of the red cell. Amer J Med 41:799-814, 1966.Crossref 27. Serjeant GR: Irreversibly sickled cells and splenomegaly in sickle-cell anaemia. Brit J Haemat 19:635-641, 1970.Crossref 28. Gabuzda TG, Nathan DG, Gardner FH: The turnover of hemoglobins A, F and A2 in the peripheral blood of three patients with thalassemia. J Clin Invest 42:1678-1688, 1963.Crossref 29. Fessas P, Stamatoyannopoulos G: Hereditary persistence of fetal hemoglobin in Greece: A study and a comparison. Blood 24:223-240, 1964. 30. Conley CL, Weatherall DJ, Richardson SN, et al: Hereditary persistence of fetal hemoglobin: A study of 79 affected persons in 15 Negro families in Baltimore. Blood 21:261-281, 1963.

Journal

Archives of Internal MedicineAmerican Medical Association

Published: Jun 1, 1972

References